Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation |
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| Authors: | Killian O'Rourke MRCPI Mark R. Buddles PhD Michael Farrell FRCPath Rachel Howley BSc Sunita Sukuraman MRCPI Sean Connolly FRCPI Douglass M. Turnbull FRCP Michael Hutchinson FRCPI Robert W. Taylor PhD |
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| Affiliation: | 1. Department of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland;2. Mitochondrial Research Group, Institute of Ageing and Health, Medical School, Newcastle University, UK;3. Department of Neuropathology, Beaumont Hospital, Dublin, Ireland |
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| Abstract: | We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNALys (MTTK) gene. The clinical features in this case are severe, including short stature, myopathy, peripheral neuropathy, and osteoporosis, while extensive analysis of maternal relatives indicate that the mutation has arisen de novo and was not maternally inherited. This report of a second case, together with single muscle fiber mutation analysis that shows clear segregation of mutation load with cytochrome c oxidase deficiency, confirms that the mutation is pathologic. Muscle Nerve, 2009 |
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| Keywords: | mitochondrial myopathy mitochondrial DNA tRNA mutation cytochrome c oxidase single muscle fiber mutation analysis |
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